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Type: | Artigo |
Title: | The long-term outcome of boys with partial androgen insensitivity syndrome and a mutation in the androgen receptor gene |
Author: | Lucas-Herald, A. Bertelloni, S. Juul, A. Bryce, J. Jiang, J. Rodie, M. Sinnott, R. Boroujerdi, M. Johansen, M. Lindhardt Hiort, O. Holterhus, P. M. Cools, M. Guaragna-Filho, G. Guerra-Junior, G. Weintrob, N. Hannema, S. Drop, S. Guran, T. Darendeliler, F. Nordenstrom, A. Hughes, I. A. Acerini, C. Tadokoro-Cuccaro, R. Ahmed, S. F. |
Abstract: | Background: In boys with suspected partial androgen insensitivity syndrome (PAIS), systematic evidence that supports the long-term prognostic value of identifying a mutation in the androgen receptor gene (AR) is lacking. Objective: To assess the clinical characteristics and long-term outcomes in young men with suspected PAIS in relation to the results of AR analysis. Methods: Through the International Disorders of Sex Development Registry, clinical information was gathered on young men suspected of having PAIS (n = 52) who presented before the age of 16 years and had genetic analysis of AR. Results: The median ages at presentation and at the time of the study were 1 month (range, 1 day to 16 years) and 22 years (range, 16 to 52 years), respectively. Of the cohort, 29 men (56%) had 20 different AR mutations reported. At diagnosis, the median external masculinization scores were 7 and 6 in cases with and without AR mutation, respectively (P =.9), and median current external masculinization scores were 9 and 10, respectively (P =.28). Thirty-five men (67%) required at least one surgical procedure, and those with a mutation were more likely to require multiple surgeries for hypospadias (P =.004). All cases with an AR mutation had gynecomastia, compared to 9% of those without an AR mutation. Of the six men who had a mastectomy, five (83%) had an AR mutation. Conclusions: Boys with genetically confirmed PAIS are likely to have a poorer clinical outcome than those with XY DSD, with normal T synthesis, and without an identifiable AR mutation. Routine genetic analysis of AR to confirm PAIS informs long-term prognosis and management |
Subject: | Síndrome de resistência a andrógenos |
Country: | Estados Unidos |
Editor: | Oxford University Press |
Rights: | Fechado |
Identifier DOI: | 10.1210/jc.2016-1372 |
Address: | https://academic.oup.com/jcem/article/101/11/3959/2764925 |
Date Issue: | 2016 |
Appears in Collections: | FCM - Artigos e Outros Documentos |
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